Linked Data
ClinVar Variation Id:
215142
dbSNP Id:
rs199632531
gnomAD v3:
6-158120465-G-A
gnomAD v4:
6-158120465-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158120465G>A , CM000668.2:g.158120465G>A | GRCh38 |
| NC_000006.11:g.158541497G>A , CM000668.1:g.158541497G>A | GRCh37 |
| NC_000006.10:g.158461485G>A | NCBI36 |
| NG_032889.1:g.52816C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000435180.6:c.388C>T | ENSP00000391168.2:p.Gln130Ter | |
| ENST00000607071.6:c.*846C>T | ENSP00000475855.1:n.*846C>T | |
| ENST00000642244.1:c.1036C>T | ENSP00000493554.1:p.Gln346Ter | |
| ENST00000642903.1:c.1126C>T | ENSP00000493559.1:p.Gln376Ter | |
| ENST00000644972.1:c.1126C>T | ENSP00000496451.1:p.Gln376Ter | |
| ENST00000645077.1:c.*797C>T | ENSP00000496113.1:n.*797C>T | |
| ENST00000645172.1:c.*828C>T | ENSP00000495367.1:n.*828C>T | |
| ENST00000646190.1:n.2457C>T | ||
| ENST00000646208.1:c.862C>T | ENSP00000493723.1:p.Gln288Ter | |
| ENST00000646410.1:c.997C>T | ENSP00000494205.1:p.Gln333Ter | |
| ENST00000646562.1:c.*960C>T | ENSP00000496087.1:n.*960C>T | |
| ENST00000647468.2:c.1126C>T MANE Select | ENSP00000496731.1:p.Gln376Ter | |
| ENST00000648111.1:c.*770C>T | ENSP00000497275.1:n.*770C>T | |
| ENST00000367101.5:c.1126C>T | ENSP00000356068.1:p.Gln376Ter | |
| ENST00000367104.7:c.1126C>T | ENSP00000356071.3:p.Gln376Ter | |
| ENST00000606965.5:c.1012C>T | ENSP00000475808.1:p.Gln338Ter | |
| ENST00000607071.5:c.*1060C>T | ENSP00000475855.1:n.*1060C>T | |
| ENST00000607742.5:c.*960C>T | ENSP00000475523.1:n.*960C>T | |
| NM_032861.3:c.1126C>T | NP_116250.3:p.Gln376Ter | |
| NR_073096.1:n.1154C>T | ||
| XM_006715586.1:c.916C>T | XP_006715649.1:p.Gln306Ter | |
| XM_011536196.1:c.1105C>T | XP_011534498.1:p.Gln369Ter | |
| XM_011536197.1:c.1012C>T | XP_011534499.1:p.Gln338Ter | |
| XM_011536198.1:c.916C>T | XP_011534500.1:p.Gln306Ter | |
| XR_942606.1:n.1127C>T | ||
| XM_006715586.3:c.916C>T | XP_006715649.1:p.Gln306Ter | |
| XM_011536196.3:c.1105C>T | XP_011534498.1:p.Gln369Ter | |
| XM_011536198.3:c.916C>T | XP_011534500.1:p.Gln306Ter | |
| XM_024446573.1:c.1126C>T | XP_024302341.1:p.Gln376Ter | |
| XR_001743697.2:n.1207C>T | ||
| XR_942606.2:n.1258C>T | ||
| NM_032861.4:c.1126C>T MANE Select | NP_116250.3:p.Gln376Ter | |
| NR_073096.2:n.1136C>T |